Wyniki wyszukiwania

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Molekularne podstawy działania leków przeciwdepresyjnych

100%

Buzuk M., Owecki M.

Postępy Biologii Komórki

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2014

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tom 41

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nr 1

2

Biologia molekularna chorob poliglutaminowych

100%

Owecki M., Kozubski W.

Postępy Higieny i Medycyny Doświadczalnej

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2002

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tom 56

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nr 6

779-788

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Analysis of mutation in SPR and HTRA2 genes in patients with Parkinson’s disease

71%

Polrolniczak A., Dorszewska J., Florczak-Wyspianska J., Owecki M., Kozubski W.

Acta Neurobiologiae Experimentalis

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2013

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tom 73

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nr 1

Diagnosis of Parkinson’s disease (PD) is often problematic because clinically it can be difficult to distinguish idiopathic PD from the other extrapyramidal disorders. It is known, that PD is caused either by environmental and genetic factors . Genetic mutations are the cause of familial form of PD and include genes PARK1-PARK18. The etiology of sporadic PD (SPD) is still not clear, but it is currently assumed that genetic susceptibilities, may be involved. It is suggested, that in pathogenesis of the SPD beside SNCA and PARK2 genes, may be involved also SPR (sepiapterin reductase gene) [PARK3] and HTRA2 (HTRA serine peptidase 2 gene)[PARK13] genes. The HTRA2 gene, also known as Omi, was found to be associated with PD in German population. However, some studies have indicated that some variants of HTRA2 may not be related to PD. SPR gene, which is located in the PARK3 linkage region is inconsistently associated with a risk of PD but significance of mutations in this gene as well as HTRA2 in PD is still not clear. The aim of the study was the analysis of the frequency of T637A/G SPR as well G421T, G1195A and C1210T mutations in HTRA2 gene in Polish patients with PD and in control group. Peripheral blood was collected from 89 patients with PD clinical diagnosis (42F and 47M, the avr. age 62 ± 10.15 years), and from 113 healthy donors (79F and 7M, the avr. age 55.5 ± 9.54 years). Genomic DNA was isolated using standard protocols. Genotyping was performed by PCR/RFLP using specific primers and restriction enzymes (SsiI, MboII, MvaI, MspI) and sequencing. The SPR gene analysis detected T637A mutation in 3 (3%) PD patients compared to 2 (2%) persons in the control group. Moreover, mutations G421T and G1195A of HTRA2 gene have been identified in 3 (3%) [G421T – 1%, G1195A – 2%] patients with PD and none of controls. Analysis of C1210T HTRA2 mutation detected no mutated variant both in PD patients group and in control group. It was also observed that the stage of the disease was 1–2 in Hoehn and Yahr scale and response to L-dopa was good in patients with T637A SPR and G421T, G1195A HTRA2 mutations. It was also observed some tendency for depression manifestation in PD patients with T637A SPR mutation. It can be concluded, that mutations of SPR and HTRA2 genes probably may be one of the risk factor for manifestation of PD. Thus, the results of this study suggest that analysis of T637A SPR and G421T, G1195A HTRA2 genes mutations may be an additional diagnostic and prognostic factor in PD patients in the future.

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Substantia nigra hyperechogenicity in Polish patients with Parkinson’s disease

61%

Ambrosius W., Michalak S., Owecki M., Lukasik M., Florczak-Wyspianska J., Kozubski W.

Folia Morphologica

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2014

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tom 73

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nr 3

Background: Hyperechogenicity of the substantia nigra (SN) measured by transcranial sonography (TCS) is a characteristic feature observed in patients with Parkinson’s disease (PD). To our knowledge, no SN hyperechogenicity data are available for Polish population. Moreover most of studies come from few centres, which used the one type of ultrasound device. The main aim of the study was to investigate the association between PD and SN hyperechogenicity measured by sonographic machine, not assessed so far. Materials and methods: In this study cross-sectional study SN hyperechogenicity was evaluated in 102 PD patients and 95 control subjects. Midbrain was visualised by Aloka Prosound 7 ultrasound device. SN area measurement, the relation to the clinical features of PD, inter- and intra-observer reliability were evaluated. Results: We confirmed that SN echogenicity is significantly increased in PD patients compared to control subjects (p < 0.001). The area under curve for PD patients vs. controls was 0.93. Receiver operating characteristic analysis indicated a cut-offs for SN echogenicity at 0.19 cm² with accuracy equal to 90%, specificity — 86% and sensitivity — 93.7%. The SN hyperechogenicity was not related to PD clinical findings. Reliability was good if an experienced sonographer performed the SN measurements. Conclusions: This study shows that the SN abnormality observed by TCS is a specific feature, which can be helpful in the process of PD diagnosing. (Folia Morphol 2014; 73, 3: 267–271)

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Polymorphisms of the PARK2 gene and Parkin protein levels in patients with Parkinson’s disease

61%

Dorszewska J., Debek A., Oczkowska A., Florczak-Wyspianska J., Owecki M., Kozubski W.

Acta Neurobiologiae Experimentalis

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2013

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tom 73

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nr 1

Parkinson’s disease (PD) is one of the most common degenerative diseases of the extrapyramidal system, the frequency of which increases with age. It is now believed that the causes of PD are environmental and genetic factors. Important genetic factors resulting in PD are mutations in the PARK2 gene, which may affect the level of Parkin. The aim of the study was conducted on 234 individuals of the Polish population: 89 patients diagnosed with PD, 32 patients diagnosed with Parkinson’s syndrome and 113 individuals from the control group without neurological symptoms and characteristics of dementia. As a result of the methods of analysis demonstrated the following: G930C mutation of exon 8 in the PARK2 gene, which was analysed by performing PCR-RFLP. Detection of deletion of exon 2 using PCR. Whereas the evaluation of mutations within exon 11 in PARK2 gene was performed using HRM method and sequencing. Also performed to measure the concentration of Parkin’s plasma in blood using ELISA method. The study results no presence of the deletion of exon 2 in the PARK2 gene in any individual study. At the same time, it was almost 3-times higher frequency of G930C mutation in exon 8 PARK2 in patients with PD and almost 6-times higher incidence of mutation G1281 A in exon 11 of PARK2 in PD patients compared with controls. At the same time, in the present study demonstrated that the presence of mutations in 8 and 11 exon of PARK2 gene does not appear to be associated with the generate of Parkin’s plasma concentration. Genotype-fenotype study in the PARK2 gene can constitute intravital diagnostic tests in patients with PD, as well as in patients diagnosed with Parkinson’s syndrome in the course of a degenerative disease.

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The correlation between two potentially antagonistic human adipocytokines, WISP-1 and CTRP1, and their association with insulin resistance

61%

Mirr M., Braszak-Cymerman A., Ludziejewska A., Kregielska-Narozna M., Bogdanski P., Owecki M.

Annals of Agricultural and Environmental Medicine

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2023

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tom 30

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nr 3

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SNCA, PARK2 and LRRK-2 mutations in Polish patients with sporadic Parkinson’s disease

51%

Polrolniczak A., Dorszewska J., Florczak J., Owecki M., Rozycka A., Rubis B., Jagodzinski P. P., Kozubski W.

Acta Neurobiologiae Experimentalis

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2011

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tom 71

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nr 1

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in Poland. Although the genetic basis of familial PD is now well established, the majority of PD is sporadic and occurs without a clear mode of inheritance. The etiology of sporadic PD remains unknown, but it is currently assumed that genetic susceptibilities may be involved. The observation that mutations in α-synuclein (SNCA), parkin (PARK2)and leucine-rich repeat kinase 2 (LRRK2) genes are common in familial PD and increasing evidence supporting a direct role for PARK2 and LRRK-2 in sporadic both early- and late-onset disease make those genes a particularly compelling candidate for intensified investigation. The aim of the study was analysis and identification of SNCA, PARK2 and LRRK-2 mutation in Polish patients with sporadic PD. Peripheral blood was collected from 34 patients with sporadic PD clinical diagnosis (the average age 58 years), and 22 patients with the other neurological diseases (the average age 55 years) as well as from 25 healthy donors (the average age 60 years). Genomic DNA was isolated using standard protocols. SNCA mutations analysis was performed to exclude one of the familial forms of PD. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragment of SNCA exon 3 detected no G88C mutation. PCR-amplification of parkin exons 2 and 4 also detected no exon deletion. Moreover exon 41 of LRRK-2 gene as well as exons 4, 7 and 11 of PARK2 gene was screened using realtime PCR/HRM and exon sequencing. None of the patients as well as control subjects tested had mutation of LRRK2 gene. These results are consistent with previous reports in the Polish population Mutation in tested exons of PARK2 gene were identified in 20,6% patients with sporadic PD, 4,5% patients with the other neurological disorders and 4,0% control subjects. All detected mutations were heterozygous. One of the PD patients had two mutations in PARK2 gene (G1281A, G601A). It can be concluded, that both G88C SNCA and G2019S LRRK-2 mutations as well as deletion of 2 and 4 exon of parkin gene are rare causes of PD in Poland. Moreover point mutation in PARK2 seems to be associated with sporadic PD in polish population. Thus, the results of this study suggest that screening for PARK2 mutations may be a component of genetic testing for sporadic PD.

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Circadian rhythms of melatonin and cortisol in manifest Huntington's disease and in acute cortical ischemic stroke

51%

Adamczak-Ratajczak A., Kupsz J., Owecki M., Zielonka D., Sowinska A., Checinska-Maciejewska Z., Krauss H., Michalak S., Gibas-Dorna M.

Journal of Physiology and Pharmacology

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2017

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tom 68

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nr 4

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The role of serum C-reactive protein measured by high-sensitive method in thyroid disease

42%

Czarnywojtek A., Owecki M., Zgorzalewicz-Stachowiak M., Wolinski K., Szczepanek-Parulska E., Budny B., Florek E., Waligorska-Stachura J., Miechowicz I., Baczyk M., Sawicka N., Dhir S., Ruchala M.

Archivum Immunologiae et Therapiae Experimentalis

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2014

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tom 62

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nr 6

Ograniczanie wyników

Molekularne podstawy działania leków przeciwdepresyjnych

Biologia molekularna chorob poliglutaminowych

Analysis of mutation in SPR and HTRA2 genes in patients with Parkinson’s disease

Substantia nigra hyperechogenicity in Polish patients with Parkinson’s disease

Polymorphisms of the PARK2 gene and Parkin protein levels in patients with Parkinson’s disease

The correlation between two potentially antagonistic human adipocytokines, WISP-1 and CTRP1, and their association with insulin resistance

SNCA, PARK2 and LRRK-2 mutations in Polish patients with sporadic Parkinson’s disease

Circadian rhythms of melatonin and cortisol in manifest Huntington's disease and in acute cortical ischemic stroke

The role of serum C-reactive protein measured by high-sensitive method in thyroid disease